ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.1206C>A (p.Arg402=)

gnomAD frequency: 0.00014  dbSNP: rs2229829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980271 SCV001128221 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111881 SCV001269488 likely benign Vitamin D-dependent rickets type II with alopecia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV001111881 SCV002796642 likely benign Vitamin D-dependent rickets type II with alopecia 2021-09-10 criteria provided, single submitter clinical testing

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